Browse > Article

A case of hereditary hemorrhagic telangiectasia  

Lee, Young Seung (Department of Pediatrics, Seoul National University College of Medicine)
Kim, Seonguk (Department of Pediatrics, Seoul National University College of Medicine)
Kang, Eun Kyeong (Department of Pediatrics, Seoul National University College of Medicine)
Park, June Dong (Department of Pediatrics, Seoul National University College of Medicine)
Publication Information
Clinical and Experimental Pediatrics / v.50, no.10, 2007 , pp. 1018-1023 More about this Journal
Abstract
Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are all due to abnormalities of the vascular structure. This report deals with the case of a 14-year-old girl with typical features of HHT that include recurrent epistaxis, mucocutanous telangiectases, pulmonary and cerebral AVMs and a familial occurrence.
Keywords
Telangiectasia; Hereditary Hemorrhagic; Recurrence; Epistaxis; Arteriovenous Malformations; Inheritance Patterns;
Citations & Related Records
Times Cited By KSCI : 2  (Citation Analysis)
연도 인용수 순위
1 Dakeishi M, Shioya T, Wada Y, Shindo T, Otaka K, Manabe M et al. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Hum Mutat 2002;19:140-8   DOI   ScienceOn
2 Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler- Weber syndrome). Am J Med Genet 2000;91:66-7   DOI   ScienceOn
3 Morrell NW. Screening for pulmonary arteriovenous malformations. Am J Respir Crit Care Med 2004;169:978-9   DOI   ScienceOn
4 Garcia-Tsao G, Korzenik JR, Young L, Henderson KJ, Jain D, Byrd B et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2000;343:931-6   DOI   ScienceOn
5 Begbie ME, Wallace GM, Shovlin CL. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J 2003;79:18-24   DOI
6 Plauchu H, de Chadarvian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989;32:291-7   DOI   ScienceOn
7 Dines DE, Arms RA, Bernatz PE, Gomes MR. Pulmonary arteriovenous fistulas. Mayo Clin Proc 1974:49:460-5
8 Kjeldsen AD, Oxhoj H, Andersen PE, Elle B, Jacobsen JP, Vase P. Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest 1999;116:432-9   DOI   ScienceOn
9 Bideau A, Plauchu H, Brunet G, Robert J. Epidemiological investigation of Rendu-Osler disease in France: its geographical distribution and prevalence. Pupulation 1989:44:3-22
10 Cottin V, Plauchu H, Bayle JY, Barthelet M, Revel D, Cordier JF. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 2004;169:994-1000   DOI   ScienceOn
11 Kjeldsen AD, Kjeldsen J. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 2000;95:415-8   DOI
12 Song JW, Kim HJ, Y oon YR, Kim YT. A Case of Hereditary Hemorrhagic Telangiectasia managed with intranasal topical estrogen. Korean J Otolaryngol 2006:49:447-50
13 Kjeldsen AD, Oxhoj H, Andersen PE, Green A, Vase P. Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT). J Intern Med 2000;248:255-62   DOI   ScienceOn
14 Matsubara S, Mandzia JL, ter Brugge K, Willinsky RA, Faughnan ME. Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol 2000;21 :1016-20
15 Kim HJ, Yoon YS, Seo JK, Moon HR, Yeon KM. Hereditary hemorrhagic telangiectasia with pulmonary arterivenous fistula. Korean J Pediatr 1984;27:390-4
16 Johnson DW, Berg JN, Gallione CJ, McAllister KA, Warner JP, Helmbold EA et al. A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. Genome Res 1995;5:21-8   DOI
17 Kim SS, Y oo SY, Kim MS, Choi YS. A case of hereditary hemorrhagic telangiectasia: surgical treatment with modified septodermoplasty. Korean J Otolaryngol 1999:42:245-8
18 Maher CO, Piepgras DG, Brown RD, Friedman JA, Pollock BE. Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke 2001;32:877-82   DOI   ScienceOn
19 McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8:345-51   DOI   ScienceOn
20 Cole SG, Begbie ME, Wallace GM, Shovlin CL. A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet 2005:42:577-82   DOI
21 Burke CM, Safai C, Nelson DP, Raffin T A. Pulmonary arteriovenous malformations: a critical update. Am Rev Respir Dis 1986;134:334-9
22 McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA et al. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet 1994;6:197-204   DOI   ScienceOn
23 Haitjema T, Disch F, Overtoom TT, Westermann CJ, Lammers JW. Screening family members of patients with hereditary hemorrhagic telangiectasia. Am J Med 1995;99:519-24   DOI   ScienceOn
24 Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med 1999;245:31-9   DOI   ScienceOn
25 Guttmacher AE, Marchuk DA, White RI. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995;333:918-24   DOI   ScienceOn
26 Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996;13:189-95   DOI   ScienceOn